2MIN READ |Neuropsychology

New Research Explores Treating Neurological Symptoms of CHARGE Syndrome

Cite This
, (2021, April 28). New Research Explores Treating Neurological Symptoms of CHARGE Syndrome.Psychreg on Neuropsychology.//www.mums-channel.com/neurological-symptoms-charge-syndrome/
Reading Time:2minutes

CHARGE syndrome is a rare genetic disorder affecting about 1 in 10,000 newborns. It can lead to neurological and behavioural disorders for which no treatment is currently available.Dr Kessen Pattenand his team, from theInstitut national de la recherche scientifique(INRS) have just discovered a compound that could alleviate these symptoms. Theresultsof their research were published in the journalEMBO Reports

Understanding neurological disorders

First described in 1979, CHARGE syndrome is caused by mutations in the CHD7 gene and is associated with neurodevelopmental disorders such as intellectual disability,attention deficit disorder有或没有过度活跃,seizures, andautism spectrum disorder.彭定康博士的研究小组研究了神经al symptoms of this syndrome, which are still poorly understood.

The team developed a genetic model of zebrafish with loss of function of the CHD7 gene similar to that observed in humans. They found that the CHD7 gene regulated the type of GABAergic neurons that are essential for proper brain function.

‘The loss of function of CHD7 appears to cause developmental and functional abnormalities in GABAergic neurons in the zebrafish brain that are related to the observed neurological and behavioural disorders,’ explained Dr Patten, who specialises in genetics andneurodegenerative diseases.The team also identified molecular events controlled by the CHD7 gene to explain these neurological symptoms in their genetic model. Similar findings were made using cells from patients with the disease.

Finding a drug

The research team tested hundreds of compounds already approved for clinical use by the U.S. Food and Drug Administration. Drug screening was used to identify potential candidates for treatment; ephedrine was selected as the most therapeutic compound. ‘We observed therapeutic effects on both, the neurological and behavioural symptoms,’ said PhD student Priyanka Jamadagni, lead author of the article. ‘It allowed the diseased zebrafish model to partially recover its normal functions.’

This research opens the door to new avenues for the treatment of other neurological disorders with similar neuronal imbalances, such as autism spectrum disorder and hyperactivity.


Psychreg is mainly for information purposes only; materials on this website are not intended to be a substitute for professional advice. Don’t disregard professional advice or delay in seeking treatment because of what you have read on this website. Read ourfull disclaimer

Baidu
map